Newborn Screening in India


Newborn screening is an important preventive public health programme of the 21st century. It is implemented in majority of the developed countries. India is yet to start any publicly funded programme despite this having been established practice in many countries for over 50 years.

The purpose of newborn screening is to identify babies with biochemical or enzymatic disorders, which are NOT obvious clinically even if examined by an experienced neonatal paediatrician; and if present, can lead to lot of morbidity and mortality in the newborn. It can be described as a silent killer. Detection of a disorder must have clear benefit for the baby and be cost effective when compared to the cost associated with delayed treatment. These criteria have been put forth by International Society on Newborn Screening (ISNS), and are being followed by many countries for implementation of screening around the world.

Once a country decides to implement screening — then what to screen for? This depends upon several factors — epidemiology, incidence of the ­diseases and its severity on the affected person, and the cost of screening along with facilities for the treatment. We don’t have enough data to say which diseases we need to screen for? Each country has to make its own choice of which disorders they need to screen. Some of the European countries screen for anywhere between 6 to 8 disorders. Australia and USA are on the top of the list with screening for nearly 50 disorders including Tandem Mass Spectrometry (TMS). The Asia-Pacific region has a long history in this too — the late Emeritus Professor Wong Hock Boon in 1965 initiated cord blood Glucose 6 Phosphatase Dehydrogenase (G6PD) screening in Singapore, which virtually eliminated kernicterus (brain damage due to high levels of jaundice in a newborn baby). Philippines screens for 4 common disorders in their country — hypothyroidism, congenital adrenal hyperplasia, G6PD and Galactosaemia. China has recently made it mandatory for all the obstetricians and paediatricians to provide written information to all parents so that they can make informed choice.

In India, currently we have enough data to suggest that we can implement screening for 4 major diseases, which are either making our babies die or disabled for no fault of theirs or their families. This is attributed to the ignorance and  apathy from the Government. The four diseases which should probably be screened for in India are Congenital Hypothyroidism (wherein the baby will become mentally retarded by one month of age), G6PD Deficiency (if the enzyme is deficient in the baby, he/she would develop severe ­jaundice making the baby deaf, disabled and also permanently retarded), Congenital Adrenal Hyperplasia (CAH) — deficiency of an enzyme can make girls look like boys and boys can be deceivingly normal, until they die! Galactosaemia is comparable to diabetes in adults — a baby who is deficient in the enzyme Galactose Phosphatase will not digest the sugar called Galactose (present in breast and other milks in large quantities), leading to high levels of the sugar, causing brain damage and also predisposes the baby for severe infections leading to disability or death.

The incidence of these diseases in India is much more than in the rest of the world. The cost of their screening should not be more than Rs 500; sadly, the industry is pegging up the cost with a huge profit margin when they offer screening for these diseases and therefore it is being rejected by many people.

Though systematic neonatal screening for congenital hypothyroidism was introduced in the early 1970s in many countries, in India an estimated 10,000 babies are born with congenitial hypothyroidism every year; yet there is no screening programme for it.

Other screenings include Newborn Hearing Screening — which has virtually eliminated the “dumb” in the world, as people become impaired of speech only if they are hearing-impaired and if deafness can be identified within three months of birth, babies can be effectively treated.

Congenital Heart Screening is another simple area, which costs less than Rs 100 per baby, but has virtually eliminated deaths due to severe cyanotic congenital heart diseases in the last few years.

The list is growing each year, but we have to make the right decision to save our future generation. Rotary clubs along with Rotary International probably can address this challenge to save the babies.

Prof Dr R Kishore Kumar, RC Bangalore South, RID 3190

(The author is a Neonatologist & Paediatrician, working in ­Cloudnine Hospitals, Bangalore and an Adjunct Professor of Neonatology at Notre Dame University, Perth, ­Australia. Contact Dr. Kishore Kumar at ­drkishore@­

G6PD Deficiency

Parsis — 11 to 15%
Higher castes — 1 to 5%
Schedule castes — 10 to 20%
Tribes — 10 to 20 %
Cutchi bhanushalis — 13%
Sindhis — 7%
Punjabi khatris — 18%
U.P. — 6%


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